Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	multiple endocrine neoplasia type 2B
Synonyms	Neuromata, mucosal, with endocrine tumors mucosal Neuroma syndrome multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type 3 (formerly) Wagenmann-Froboese syndrome multiple endocrine neoplasia type 3 multiple endocrine neoplasia IIB men type IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type III men IIB multiple endocrine neoplasia type 2B men 2B men type 2B mucosal neuroma syndrome multiple endocrine neoplasia, type 3 MEN2B multiple endocrine neoplasia type IIB multiple endocrine neoplasia, type III
Definitions	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.
ID	http://purl.obolibrary.org/obo/MONDO_0008082
altLabel	Neuromata, mucosal, with endocrine tumors mucosal Neuroma syndrome multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type 3 (formerly) Wagenmann-Froboese syndrome multiple endocrine neoplasia type 3 multiple endocrine neoplasia IIB men type IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type III men IIB multiple endocrine neoplasia type 2B men 2B men type 2B mucosal neuroma syndrome multiple endocrine neoplasia, type 3 MEN2B multiple endocrine neoplasia type IIB multiple endocrine neoplasia, type III
definition	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.
has_exact_synonym	Wagenmann-Froboese syndrome multiple endocrine neoplasia type 3 multiple endocrine neoplasia IIB men type IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type III men IIB multiple endocrine neoplasia type 2B men 2B men type 2B mucosal neuroma syndrome multiple endocrine neoplasia, type 3 MEN2B multiple endocrine neoplasia type IIB multiple endocrine neoplasia, type III
has_related_synonym	Neuromata, mucosal, with endocrine tumors mucosal Neuroma syndrome multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type 3 (formerly)
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
label	multiple endocrine neoplasia type 2B
prefixIRI	MONDO:0008082
prefLabel	multiple endocrine neoplasia type 2B
seeAlso	https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b
textual definition	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0019003 http://purl.obolibrary.org/obo/MONDO_0006295

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008082	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008082	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008082	EFO	SAME_URI
http://purl.obolibrary.org/obo/DOID_10016	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0008082	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_10016	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_10016	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_10016	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_10016	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_10016	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_10016	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_10016	FNS-H	LOOM
http://purl.obolibrary.org/obo/NCIT_C3227	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0018961	OMIT	LOOM
http://www.semanticweb.org/hx-jta/ontologies/thyroid_cancer_ontology#Multiple_Endocrine_Neoplasia_Type_2B	TCO	LOOM
http://purl.jp/bio/4/id/200906079327446268	IOBC	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10016	NATPRO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.344.400.510	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3227	NCIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.630.510	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCD/X40Ob	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.630.510	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073151	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Multiple_Endocrine_Neoplasia_Type_III	CSEO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.600.510	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.322.400.510	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_247709	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018814	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0008082	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008082	EFO	LOOM
http://id.nlm.nih.gov/mesh/D018814	MDM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/61530001	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MESH/D018814	MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19539	HRDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201053	NANDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038154	PMAPP-PMO	LOOM